Invaluable Role of Consanguinity in Providing Insight into Paediatric Endocrine Conditions: Lessons Learnt from Congenital Hyperinsulinism, Monogenic Diabetes, and Short Stature

Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families

(2020) Shenali Anne Amaratunga et al.   Hormone Research in Paediatrics

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes

(2019) Matthew B. Johnson et al.   Current Diabetes Reports

Carrier screening for recessive disorders

(2019) Stylianos E. Antonarakis   NATURE REVIEWS GENETICS

The molecular basis of congenital hypopituitarism and related disorders

(2019) Louise Cheryl Gregory et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable risks

(2018) Luca Persani et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Genetics of Short Stature

(2017) Youn Hee Jee et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

Hyperinsulinaemic hypoglycaemia in children and adults

(2017) Pratik Shah et al.   Lancet Diabetes & Endocrinology

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

(2016) Charles A. Stanley   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Developmental Regulation of the Growth Plate and Cranial Synchondrosis

(2016) X. Wei et al.   JOURNAL OF DENTAL RESEARCH

Genetic risk factors for type 1 diabetes

(2016) Flemming Pociot et al.   LANCET

Genetic Evaluation of Short Stature

(2014) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genomics in Pediatric Endocrinology—Genetic Disorders and New Techniques

(2011) Alfred Tenore et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Consanguinity and its relevance to clinical genetics

(2003) AH Bittles   CLINICAL GENETICS